Professor Dame Sue Hill OBE PhD DSC CBiol FRSB Hon FRCP Hon FRCPath is the Chief Scientific Officer for England – providing expert clinical scientific advice across the health system and head of profession for the healthcare science workforce in the NHS and associated bodies – embracing more than 50 separate scientific specialisms.

Sue is the Senior Responsible Officer for Genomics in NHS England, leading developments in this area, having previously established the NHS Genomic Medicine Centres and led the NHS contribution to the 100,000 Genomes Project. She is a respiratory scientist by background with an international academic and clinical research reputation.

Penelope Bonnen, an Associate Professor of Molecular and Human Genetics at Baylor College of Medicine, Dr. Bonnen is applying her acumen in bioinformatics and human genetics to gene discovery studies for an array of phenotypes and diseases including disorders caused by mitochondrial dysfunction and cancer. The Bonnen lab develops and applies methods for analyzing next-generation sequence data and interpretation of human variation. We collaborate closely with clinicians to translate our findings to clinical and diagnostic settings.

Specialties: human genetics, genomics, functional genomics, bioinformatics, population genetics, mitochondrial disease, metabolic disease, cancer, NGS

Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine and director of clinical genetics at Columbia University. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. in genetics from The Rockefeller University.

Dr. Chung directs NIH-funded research programs in human genetics of pulmonary hypertension, autism, and birth defects, including congenital diaphragmatic hernia and congenital heart disease. She is a national leader in the ethical, legal, and social implications of genomics. She leads the Precision Medicine Resource in the Irving Institute for Clinical and Translational Research at Columbia University.

Dr. Chung has authored more than 500 peer-reviewed papers and 75 reviews and chapters in medical texts. She was the recipient of the Medical Achievement Award from Bonei Olam, the New York Academy of Medicine Medal for Distinguished Contributions in Biomedical Science, and the Rare Impact Award from the National Organization for Rare Disorders and is a member of the National Academy of Medicine and the American Academy of Physicians. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost-effective manner.

Catherine Cottrell, PhD, FACMG serves as a Senior Director of the Institute for Genomic Medicine Clinical Laboratory at Nationwide Children’s Hospital.  She is an Associate Professor – Clinical in the Departments of Pathology and Pediatrics at The Ohio State University.  Dr. Cottrell is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Cytogenetics and Molecular Genetics, having completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio in 2010. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, she ultimately served as the Director of the Cytogenetics and Molecular Pathology Laboratory, and as an Associate Professor in the Department of Pathology and Immunology, and Department of Genetics. Dr. Cottrell specializes in the clinical interpretation of complex genomic laboratory assays.  She has an interest in the development of new clinical diagnostic tests, and a focus on somatic variant interpretation in the setting of cancer and somatic mosaic disease. Her current clinical and research emphasis includes constitutional exome and genome sequencing, comprehensive somatic disease profiling, and the development of best practices in genetic variant interpretation.  Additionally, she lends genomic expertise to the Vascular Anomalies Center at NCH.  Dr. Cottrell joined as a faculty member within The Institute for Genomic Medicine at NCH in 2016.

Geoffrey Ginsburg, M.D., Ph.D., is the Chief Medical and Scientific Officer of the All of Us Research Program at the National Institutes of Health. He leads the Division of Medical and Scientific Research and is responsible for helping to set the scientific vision and strategy for the program. He also oversees the program’s collection and curation of data, and integration of new data types to support a wide range of impactful scientific discoveries. Prior to joining All of Us, Ginsburg was founding director for the Center for Applied Genomics & Precision Medicine in the Duke University School of Medicine where he pioneered translational genomics and the development of novel diagnostics. At Duke, he was professor of medicine, biostatistics and bioinformatics, pathology, and biomedical engineering. He also was a professor in the School of Nursing; he will remain adjunct professor of medicine. He has held senior leadership roles at Millennium Pharmaceuticals Inc. and was a member of the Harvard Medical School faculty.

Throughout his career, Ginsburg has demonstrated a strong commitment to interdisciplinary science and innovation, with work spanning oncology, infectious diseases, cardiovascular disease, and metabolic disorders. He has held leadership roles in the U.S. and internationally, serving as co-chair of the National Academies’ Roundtable on Genomic and Precision Health, a founding co-chair of the International HundredK+ Cohorts Consortium, and founder and president of the Global Genomic Medicine Collaborative (G2MC), a not-for-profit organization aimed at creating international partnerships to advance the implementation of precision medicine. At NIH, Ginsburg has served on the board of external experts for the National Heart, Lung, Blood Institute, as an advisory council member to the National Human Genome Research Institute and the National Centers for Advancing Translational Sciences, and most recently on the Advisory Committee of the Director of NIH.

He received his M.D. and Ph.D. in biophysics from Boston University and completed an internal medicine residency at Beth Israel Hospital in Boston. Subsequently, he pursued postdoctoral training in clinical cardiovascular medicine at Beth Israel Hospital and in molecular biology at Children’s Hospital as a Bugher Foundation Fellow of the American Heart Association.

Dr. Eric Green is the Director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). He is the third NHGRI Director, having been appointed by NIH Director Dr. Francis Collins in 2009.

Dr. Green has been at the Institute for more than 25 years, during which he has had multiple key leadership roles. He served as the Institute’s Scientific Director for 7 years, Chief of the NHGRI Genome Technology Branch for 13 years, and Founding Director of the NIH Intramural Sequencing Center for 12 years.

For just over two decades, Dr. Green directed an independent research program that included integral start-to-finish roles in the Human Genome Project and groundbreaking work on mapping, sequencing, and characterizing mammalian genomes.

Dr. Green earned his M.D. and Ph.D. degrees in 1987 from Washington University in St. Louis; coincidentally, the word “genomics” was coined in that same year.

During his career, Dr. Green has authored and co-authored over 375 scientific publications.

Stephen F. Kingsmore is President/CEO of the Rady Children’s Institute for Genomic Medicine, San Diego, which is implementing pediatric genomic medicine on an unprecedented scale. Previously he was the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the Univ. of Missouri-Kansas City School of Medicine and Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, Kansas City. He has been the President/CEO of the National Center for Genome Resources, Santa Fe, New Mexico, Chief Operating Officer of Molecular Staging Inc., Vice President of Research at CuraGen Corporation, founder of GatorGen, and Assistant Professor at the University of Florida’s School of Medicine. Dr. Kingsmore received MB ChB BAO and DSc degrees from the Queen’s University of Belfast. He trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. He was a MedScape Physician of the year in 2012, and received the 2013 Scripps Genomic Medicine award and 2013 ILCHUN prize of the Korean Society for Biochemistry and Molecular Biology. TIME magazine ranked his rapid genome diagnosis one of the top 10 medical breakthroughs of 2012.

Dr Howard McLeod is an internationally recognized expert in precision medicine, having made novel contributions at the discovery, translation, implementation, and policy levels.  He is the Medical Director for Precision Medicine at the Geriatric Oncology Consortium and a Professor at the University of South Florida Taneja College of Pharmacy.  Howard received a BSPharm from University of Washington and a PharmD from the Philadelphia College of Pharmacy & Science.  He completed clinical pharmacology fellowship training at St Jude Children’s Research Hospital and then the Beatson Institute, University of Glasgow.  Dr McLeod has been a tenured full Professor since 2002.  Dr McLeod chaired the NHGRI eMERGE network external scientific panel for the past decade and was a recent member of both the FDA committee on Clinical Pharmacology and the NIH Human Genome Advisory Council.  Dr McLeod has been recognized as a Fellow of both the American Society of Clinical Oncology and the American College of Clinical Pharmacy and was recently ranked #1 USA/#2 World for Pharmacogenomics.  He has also been an active Board Member and/or Founder for over a dozen privately held and publicly traded companies.  Howard has published over 575 peer reviewed papers on pharmacogenomics, applied therapeutics, or clinical pharmacology and continues to work to advance innovative healthcare.

Dr. Len Pennacchio is a Senior Scientist at the Lawrence Berkeley Laboratory (LBL), Deputy Director of the DOE Joint Genome Institute, and Adjunct Professor at the University of California Berkeley.  He received his PhD in Genetics from Stanford University in 1998 under Rick Myers and then served as a DOE Alexander Hollaender Distinguished Fellow at LBL under Eddy Rubin. He has authored over 150 publications and received the Presidential Early Career Award for Scientists and Engineers (PECASE) from the White House for his contributions to the Human Genome Project and understanding mammalian gene regulation in vivo. Dr. Pennacchio has an extensive background in mammalian genetics and genomics as well as with DNA sequencing technologies and their application to address outstanding issues in both the biomedical, energy, and environment sectors. He serves in numerous advisory roles such as NHGRI’s Genome Sequencing Program, the Centre for Genomic Research at the University of Liverpool, as a past permanent member of NIH’s GCAT Study Section. He also is an Organizer and Co-Chair of both annual Advances in Genome Biology & Technology (AGBT) meetings as well as a “Systems Biology of Gene Regulation and Genome Editing” meeting hosted by Cold Spring Harbor Asia. Currently his research is heavily focused on understanding the spectrum of DNA mutations that contribute to human disease through in vivo functional studies.

Kathryn A. Phillips, PhD, is Professor of Health Economics and Health Services Research at the University of California San Francisco. She founded and leads the UCSF Center for Translational and Policy Research on Precision Medicine (TRANSPERS), which focuses on developing objective evidence on how to implement precision medicine into health care so that it is effective, efficient, and equitable.

Her work focuses on assessing payer coverage, measuring economic value, and understanding provider and policy-decision. Kathryn has published over 150 peer-reviewed articles in major journals including JAMA, New England Journal of Medicine, Science, and Health Affairs and has been named as being in the top 2% of authors for career-long citations in her field and in the top 100,000 of all researchers (Baas, 2021). She has had continuous funding from NIH as a Principal Investigator for 30 years and was recently awarded a 5-year, $5M NIH grant to examine payer coverage and economic value for emerging genomic technologies.

Kathryn serves on the editorial boards for Health Affairs, Value in Health, JAMA Internal Medicine, Genetics in Medicine; is a member of the National Academy of Medicine Roundtable on Genomics and Precision Health; and has served on the governing Board of Directors for GenomeCanada and as an advisor to the FDA, CDC, and the President’s Council of Advisors on Science and Technology. She has also served as an advisor to many diagnostics, sequencing, and pharmaceutical companies as well as venture capitalists. Kathryn is Chair of the Global Economics and Evaluation of Clinical Sequencing Working Group, and a member of one of the three evidence review committees for the Institute for Clinical and Economic Review (ICER).  Her work has been quoted by the Washington Post, Wall Street Journal, New York Times, CNBC, Reuters, Newsweek, and other major news outlets.

Heidi Rehm, PhD, FACMG, a human geneticist and genomic medicine researcher, is co-director of the Program in Medical and Population Genetics and an institute member at the Broad Institute. She is the chief genomics officer in the Department of Medicine at Massachusetts General Hospital (MGH), working to integrate genomics into medical practice with standardized approaches. She is also a professor of pathology at Harvard Medical School and faculty member of the Center for Genomic Medicine at MGH.

Michael Talkowski is an institute member at the Broad Institute. He is an associate professor of neurology, with cross-appointments in psychiatry and pathology at Harvard Medical School, and a faculty member of the Center for Genomic Medicine at Massachusetts General Hospital.